scholarly journals Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas

2011 ◽  
Vol 2011 ◽  
pp. 1-13 ◽  
Author(s):  
Jun Nishio ◽  
Hiroshi Iwasaki ◽  
Kazuki Nabeshima ◽  
Masatoshi Naito
Keyword(s):  
Soft Tissue ◽  
Molecular Genetic ◽  
Soft Tissue Sarcomas ◽  
Dermatofibrosarcoma Protuberans ◽  
Myxoid Liposarcoma ◽  
Genetic Alterations ◽  
Clinicopathological Characteristics ◽  
Low Grade ◽  
Mesenchymal Tumors ◽  
Fibromyxoid Sarcoma

Myxoid soft-tissue sarcomas represent a heterogeneous group of mesenchymal tumors characterized by a predominantly myxoid matrix, including myxoid liposarcoma (MLS), low-grade fibromyxoid sarcoma (LGFMS), extraskeletal myxoid chondrosarcoma (EMC), myxofibrosarcoma, myxoinflammatory fibroblastic sarcoma (MIFS), and myxoid dermatofibrosarcoma protuberans (DFSP). Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP). Moreover, recent molecular analysis has demonstrated a translocation t(1; 10)(p22; q24) resulting in transcriptional upregulation of FGF8 and NPM3 in MIFS. Most recently, the presence of TGFBR3 and MGEA5 rearrangements has been identified in a subset of MIFS. These genetic alterations can be utilized as an adjunct in diagnostically challenging cases. In contrast, most myxofibrosarcomas have complex karyotypes lacking specific genetic alterations. This paper focuses on the cytogenetic and molecular genetic findings of myxoid soft-tissue sarcomas as well as their clinicopathological characteristics.

scholarly journals The Minimalistic Malignancy- Low grade Fibromyxoid Sarcoma

2020 ◽  
Vol 1 (3) ◽  
pp. 7-14
Author(s):  
Anubha Bajaj
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Sarcoma ◽  
Distant Metastasis ◽  
Soft Tissue Sarcomas ◽  
Benign Neoplasm ◽  
Low Grade ◽  
Biological Behaviour ◽  
Preclinical Stage ◽  
Tumour Incidence ◽  
Fibromyxoid Sarcoma

Low grade fibromyxoid sarcoma (LGFMS) is an exceptional, low grade, soft tissue sarcoma with indolent biological behaviour, extensive preclinical stage, enhanced localized tumour reoccurrence and delayed, distant metastasis. As the deceptively benign neoplasm was initially scripted by Evans in 1987, the tumefaction is nomenclated as “Evan’s tumour”. Incidence of sarcomas is nearly 1% of adult malignancies wherein low-grade fibromyxoid sarcoma represents roughly beneath <5% of soft tissue sarcomas 1.

scholarly journals Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience

2021 ◽  
Vol 13 ◽  
pp. 175883592110291
Author(s):  
Susanne Scheipl ◽  
Iva Brcic ◽  
Tina Moser ◽  
Stefan Fischerauer ◽  
Jakob Riedl ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
Myxoid Liposarcoma ◽  
Genetic Alterations ◽  
Tumour Suppressor Genes ◽  
Dna And Rna ◽  
Single Centre Experience ◽  
Somatic Gene ◽  
Fusion Detection ◽  
Gene Alterations

Background: Molecular diagnosis has become an established tool in the characterisation of adult soft-tissue sarcomas (STS). FoundationOne® Heme analyses somatic gene alterations in sarcomas via DNA and RNA-hotspot sequencing of tumour-associated genes. Methods: We evaluated FoundationOne® Heme testing in 81 localised STS including 35 translocation-associated and 46 complex-karyotyped cases from a single institution. Results: Although FoundationOne® Heme achieved broad patient coverage and identified at least five genetic alterations in each sample, the sensitivity for fusion detection was rather low, at 42.4%. Nevertheless, potential targets for STS treatment were detected using the FoundationOne® Heme assay: complex-karyotyped sarcomas frequently displayed copy-number alterations of common tumour-suppressor genes, particularly deletions in TP53, NF1, ATRX, and CDKN2A. A subset of myxofibrosarcomas (MFS) was amplified for HGF ( n = 3) and MET ( n = 1). PIK3CA was mutated in 7/15 cases of myxoid liposarcoma (MLS; 46.7%). Epigenetic regulators (e.g. MLL2 and MLL3) were frequently mutated. Conclusions: In summary, FoundationOne® Heme detected a broad range of genetic alterations and potential therapeutic targets in STS (e.g. HGF/MET in a subset of MFS, or PIK3CA in MLS). The assay’s sensitivity for fusion detection was low in our sample and needs to be re-evaluated in a larger cohort.

scholarly journals Translating Molecular Profiling of Soft Tissue Sarcomas into Daily Clinical Practice

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 512
Author(s):  
Celine Jacobs ◽  
Lore Lapeire
Keyword(s):  
Soft Tissue ◽  
Unmet Need ◽  
Soft Tissue Sarcomas ◽  
Molecular Profiling ◽  
Point Of View ◽  
Molecular Techniques ◽  
Mesenchymal Tumors ◽  
The Past ◽  
Cancer Types ◽  
Sarcoma Treatment

Soft tissue sarcomas are a group of rare mesenchymal tumors with more than 70 subtypes described. Treatment of these subtypes in an advanced setting is mainly according to a one-size-fits-all strategy indicating a high unmet need of new and more targeted therapeutic options in order to optimize survival. The introduction of advanced molecular techniques in cancer has led to better diagnostics and identification of new therapeutic targets, leading to more personalized treatment and improved prognosis for several cancer types. In sarcoma, a likewise evolution is seen, albeit at a slower pace. This manuscript describes how in the past years advanced molecular profiling in soft tissue sarcomas was able to identify specific and often pathognomonic aberrations, deferring standard sarcoma treatment in favor of more targeted treatment from an oncologist’s point of view.

scholarly journals Carbon ion radiotherapy for recurrent calf myxoid liposarcoma: a case report

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110097
Author(s):  
Xiaojun Li ◽  
Yanshan Zhang ◽  
Yancheng Ye ◽  
Ying Qi ◽  
Chunlan Feng ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
Myxoid Liposarcoma ◽  
Ion Beams ◽  
Carbon Ion Radiotherapy ◽  
Irradiation Damage ◽  
Radiation Dermatitis ◽  
Complete Disappearance ◽  
Carbon Ion ◽  
The Right

Liposarcoma (LPS) is the most common soft tissue sarcoma. Myxoid LPS (MLPS) is the second most common subtype of LPS and accounts for 25% to 50% of all LPSs. Like most other soft tissue sarcomas, the mainstay of treatment for LPS is inevitably surgery. Multidisciplinary approaches, including surgery, chemotherapy, and radiotherapy, have been successful in the treatment of LPS during the last three decades. Even so, recurrence of LPS remains challenging. Carbon ion beams produce increased energy deposition at the end of their range to form a Bragg peak while minimizing irradiation damage to surrounding tissues, which facilitates more precise dosage and localization than that achieved with photon beams. Furthermore, carbon ion beams have high relative biologic effectiveness. We herein describe a patient who developed recurrent MLPS in the right calf after two surgeries and underwent carbon ion radiotherapy (CIRT), achieving complete disappearance of the tumor. The patient developed Grade 1 radiation dermatitis 30 days after CIRT, but no other acute toxicities were observed. The tumor had completely disappeared by 120 days after CIRT, and the patient remained disease-free for 27 months after CIRT. The CARE guidelines were followed in the reporting of this case.

scholarly journals Development and External Validation of Deep-Learning-Based Tumor Grading Models in Soft-Tissue Sarcoma Patients Using MR Imaging

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2866
Author(s):  
Fernando Navarro ◽  
Hendrik Dapper ◽  
Rebecca Asadpour ◽  
Carolin Knebel ◽  
Matthew B. Spraker ◽  
...  
Keyword(s):  
Deep Learning ◽  
Soft Tissue ◽  
Mr Imaging ◽  
Characteristic Curve ◽  
External Validation ◽  
Soft Tissue Sarcomas ◽  
Treatment Decision ◽  
Receiver Operator Characteristic Curve ◽  
Low Grade ◽  
Tumor Grading

Background: In patients with soft-tissue sarcomas, tumor grading constitutes a decisive factor to determine the best treatment decision. Tumor grading is obtained by pathological work-up after focal biopsies. Deep learning (DL)-based imaging analysis may pose an alternative way to characterize STS tissue. In this work, we sought to non-invasively differentiate tumor grading into low-grade (G1) and high-grade (G2/G3) STS using DL techniques based on MR-imaging. Methods: Contrast-enhanced T1-weighted fat-saturated (T1FSGd) MRI sequences and fat-saturated T2-weighted (T2FS) sequences were collected from two independent retrospective cohorts (training: 148 patients, testing: 158 patients). Tumor grading was determined following the French Federation of Cancer Centers Sarcoma Group in pre-therapeutic biopsies. DL models were developed using transfer learning based on the DenseNet 161 architecture. Results: The T1FSGd and T2FS-based DL models achieved area under the receiver operator characteristic curve (AUC) values of 0.75 and 0.76 on the test cohort, respectively. T1FSGd achieved the best F1-score of all models (0.90). The T2FS-based DL model was able to significantly risk-stratify for overall survival. Attention maps revealed relevant features within the tumor volume and in border regions. Conclusions: MRI-based DL models are capable of predicting tumor grading with good reproducibility in external validation.

scholarly journals Well-Differentiated Liposarcoma of The Larynx: A Case Report and Review of Literature

2016 ◽  
Vol 9 (1) ◽  
pp. 85-89
Author(s):  
Svetlana A. Mateva ◽  
Margarita R. Nikolova ◽  
Alexandar V. Valkov ◽  
Margarita R. Nikolova
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
World Health ◽  
Low Grade ◽  
Review Of Literature ◽  
Grade Malignancy ◽  
Well Differentiated ◽  
Health Organization ◽  
Histologic Types

Summary Liposarcoma is one of the most common soft tissue sarcomas in adults with a relative incidence amongst other sarcomas ranging from 9.8% to 16%. It usually locates in the limbs and retroperitoneum. Primary liposarcomas of the larynx and hypopharynx are rare, comprising less than 20% of all head and neck liposarcomas. According to World Health Organization, these tumors are divided into four histologic types, and well-differentiated liposarcoma is the most common one. It is a tumor of low-grade malignancy that may recur locally, but does not metastasize. We present a case of laryngopharyngeal well- differentiated liposarcoma in an old patient with two previous removals. We also discuss recently published cases with this unusual location of liposarcoma.

PET–CT for the diagnosis and treatment of primary musculoskeletal tumors in Chinese patients - experience from 255 patients in a single center

2021 ◽  
Author(s):  
Aikeremujiang Muheremu ◽  
Tianlin Wen ◽  
Xiaohui Niu
Keyword(s):  
Soft Tissue ◽  
Case Series ◽  
Soft Tissue Sarcomas ◽  
Standardized Uptake Value ◽  
Chinese Patients ◽  
Histopathological Study ◽  
Low Grade ◽  
High Grade ◽  
Musculoskeletal Tumors ◽  
Pet Ct

Objective: The current study was carried out to assess the value of positron emission tomography (PET)/CT on the diagnosis and staging of primary musculoskeletal tumors. Methods: PET–CT test results and histopathological study reports of all the patients with primary musculoskeletal tumors in our department from January 2006 to July 2015 were retrospectively reviewed. Maximum standardized uptake value (SUVmax) in these PET–CT reports were recorded and analyzed respectively for each type of sarcoma. Results: A total of 255 patients were included in the final analysis. Sensitivity of SUVmax based diagnosis was 96.6% for primary malignant osseous sarcomas and 91.2% for soft tissue sarcomas. SUVmax of high-grade osseous sarcomas (average 8.4 ± 5.5) was significantly higher (p < 0.001) than low-grade osseous sarcomas (average 3.9 ± 1.8); based on current case series, SUVmax of high-grade soft tissue sarcomas (7.5 ± 5.1) was not significantly different (p = 0.229) from that of low-grade soft tissue sarcomas (5.3 ± 3.7). Significant decrease of SUVmax value after chemotherapy was associated with favorable prognosis in patients with osteosarcoma. Conclusion: Results of the current study indicate that, the SUVmax based application of PET–CT can be a valuable supplementary method to histopathological tests regarding the diagnosis and staging of primary musculoskeletal sarcomas. Advances in knowledge: SUVmax based application of PET–CT is a highly sensitive method in diagnosis of primary osseous and soft tissue sarcomas in Chinese patients.

scholarly journals Low-grade fibromyxoid sarcoma: A rare case in an unusual location

2020 ◽  
Vol 8 ◽  
pp. 2050313X2094431
Author(s):  
Diandra Perez ◽  
Ola El-Zammar ◽  
Brando Cobanov ◽  
Rana Naous
Keyword(s):  
Young Adults ◽  
Soft Tissue ◽  
Rare Case ◽  
Primary Site ◽  
Low Grade ◽  
Deep Soft Tissue ◽  
Unusual Location ◽  
Fibromyxoid Sarcoma ◽  
Intrathoracic Mass

Low-grade fibromyxoid sarcoma, also known as Evans tumor, is a low-grade sarcoma that most commonly arises in the deep soft tissue of the proximal extremities or trunk in young adults. It is very rare in the viscera as a primary site, with only a few cases reported in the literature. Here, we present a case of Evans tumor occurring in an unusual and rarely reported location; an intrathoracic mass arising from the diaphragmatic pleura.

scholarly journals Precision Oncology in Sarcomas: Divide and Conquer

2019 ◽  
pp. 1-16 ◽  
Author(s):  
Roberto Carmagnani Pestana ◽  
Roman Groisberg ◽  
Jason Roszik ◽  
Vivek Subbiah
Keyword(s):  
Next Generation Sequencing ◽  
Soft Tissue Sarcomas ◽  
Genetic Alterations ◽  
Divide And Conquer ◽  
Precision Oncology ◽  
Next Generation ◽  
Mesenchymal Tumors ◽  
Next Generation Sequencing Technology ◽  
Molecular Abnormalities ◽  
Generation Sequencing

Sarcomas are a heterogeneous group of rare malignancies that exhibit remarkable heterogeneity, with more than 50 subtypes recognized. Advances in next-generation sequencing technology have resulted in the discovery of genetic events in these mesenchymal tumors, which in addition to enhancing understanding of the biology, have opened up avenues for molecularly targeted therapy and immunotherapy. This review focuses on how incorporation of next-generation sequencing has affected drug development in sarcomas and strategies for optimizing precision oncology for these rare cancers. In a significant percentage of soft tissue sarcomas, which represent up to 40% of all sarcomas, specific driver molecular abnormalities have been identified. The challenge to evaluate these mutations across rare cancer subtypes requires the careful characterization of these genetic alterations to further define compelling drivers with therapeutic implications. Novel models of clinical trial design also are needed. This shift would entail sustained efforts by the sarcoma community to move from one-size-fits-all trials, in which all sarcomas are treated similarly, to divide-and-conquer subtype-specific strategies.

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